Incidental Mutation 'IGL02508:Mapkap1'
ID 296476
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapkap1
Ensembl Gene ENSMUSG00000038696
Gene Name mitogen-activated protein kinase associated protein 1
Synonyms Sin1, D230039K05Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02508
Quality Score
Status
Chromosome 2
Chromosomal Location 34296783-34514962 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 34408681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113123] [ENSMUST00000113124] [ENSMUST00000113126] [ENSMUST00000124443] [ENSMUST00000147337]
AlphaFold Q8BKH7
Predicted Effect probably benign
Transcript: ENSMUST00000113123
SMART Domains Protein: ENSMUSP00000108748
Gene: ENSMUSG00000038696

DomainStartEndE-ValueType
Pfam:SIN1 1 289 2e-125 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113124
SMART Domains Protein: ENSMUSP00000108749
Gene: ENSMUSG00000038696

DomainStartEndE-ValueType
Pfam:SIN1 18 324 4.7e-125 PFAM
Pfam:SIN1 318 445 2.1e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113126
SMART Domains Protein: ENSMUSP00000108751
Gene: ENSMUSG00000038696

DomainStartEndE-ValueType
Pfam:SIN1 18 481 1.1e-188 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124443
SMART Domains Protein: ENSMUSP00000123301
Gene: ENSMUSG00000038696

DomainStartEndE-ValueType
Pfam:SIN1 1 289 1.6e-125 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138933
Predicted Effect probably benign
Transcript: ENSMUST00000147337
SMART Domains Protein: ENSMUSP00000116494
Gene: ENSMUSG00000038696

DomainStartEndE-ValueType
Pfam:SIN1 18 129 1.2e-32 PFAM
Pfam:CRIM 139 276 3.3e-38 PFAM
Pfam:SIN1_PH 381 488 3.4e-34 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit embryonic lethality due to early developmental abnormalities. Mutant mouse embryonic fibroblasts display increased susceptibility to stress-induced apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik T A 3: 116,870,764 (GRCm39) noncoding transcript Het
Adgrv1 A T 13: 81,583,675 (GRCm39) probably benign Het
AI429214 T G 8: 37,461,240 (GRCm39) D129E probably benign Het
Alx1 G A 10: 102,858,054 (GRCm39) T215M probably damaging Het
Arhgap39 A G 15: 76,609,184 (GRCm39) *1079Q probably null Het
Brca2 T C 5: 150,466,773 (GRCm39) V2179A possibly damaging Het
Cdcp3 A G 7: 130,824,559 (GRCm39) E91G probably damaging Het
Celsr1 G A 15: 85,914,818 (GRCm39) Q1052* probably null Het
Chd5 A G 4: 152,447,481 (GRCm39) E510G probably damaging Het
Cntnap2 A G 6: 46,211,254 (GRCm39) D556G probably damaging Het
Cux2 G A 5: 121,998,885 (GRCm39) P1352S possibly damaging Het
Cyp4a31 A T 4: 115,428,261 (GRCm39) Y319F probably damaging Het
Dcaf12 C T 4: 41,296,310 (GRCm39) probably null Het
Dcc C A 18: 71,503,773 (GRCm39) A942S probably benign Het
Dyrk1a A T 16: 94,486,042 (GRCm39) D463V probably damaging Het
Eln T A 5: 134,733,422 (GRCm39) probably benign Het
Fbxl13 A G 5: 21,761,803 (GRCm39) probably null Het
Fndc3b T C 3: 27,512,900 (GRCm39) Y742C probably damaging Het
Furin G A 7: 80,042,269 (GRCm39) T442I probably benign Het
Gli1 T C 10: 127,172,961 (GRCm39) Q155R probably benign Het
Glra3 A G 8: 56,538,179 (GRCm39) E218G probably benign Het
Grb10 C T 11: 11,896,767 (GRCm39) V236M probably damaging Het
Grhl2 T C 15: 37,310,009 (GRCm39) probably benign Het
Hgfac A T 5: 35,204,564 (GRCm39) M579L probably damaging Het
Ifi202b A T 1: 173,802,338 (GRCm39) D165E probably benign Het
Klhl26 A T 8: 70,905,381 (GRCm39) D95E probably damaging Het
Klk12 T C 7: 43,419,113 (GRCm39) V26A probably benign Het
Lrp2 C T 2: 69,333,774 (GRCm39) G1489D probably benign Het
Lrrtm1 A T 6: 77,221,574 (GRCm39) S344C probably damaging Het
Lzts1 G A 8: 69,593,500 (GRCm39) R36* probably null Het
Meis3 T A 7: 15,912,722 (GRCm39) probably null Het
Mtmr14 T A 6: 113,217,267 (GRCm39) C60S probably damaging Het
Nfkb1 T A 3: 135,296,579 (GRCm39) Y789F probably damaging Het
Nup54 G A 5: 92,565,398 (GRCm39) Q440* probably null Het
Ogdhl T G 14: 32,067,131 (GRCm39) M861R probably damaging Het
Or13c7b T C 4: 43,821,289 (GRCm39) E24G possibly damaging Het
Or4d10 G T 19: 12,051,251 (GRCm39) H248Q possibly damaging Het
Or4k42 C T 2: 111,320,180 (GRCm39) A108T probably damaging Het
Or52w1 A T 7: 105,017,743 (GRCm39) H61L possibly damaging Het
Or6c69b A G 10: 129,626,660 (GRCm39) V266A probably benign Het
Pde6c A G 19: 38,145,948 (GRCm39) K412R probably benign Het
Pex5l T C 3: 33,047,051 (GRCm39) probably benign Het
Pigr A T 1: 130,778,595 (GRCm39) I760L probably benign Het
Pramel28 T C 4: 143,691,590 (GRCm39) N378D probably benign Het
Prr14l G A 5: 32,988,286 (GRCm39) A403V probably benign Het
Prrt3 T C 6: 113,471,268 (GRCm39) D968G probably damaging Het
Psmc5 T C 11: 106,153,869 (GRCm39) I401T possibly damaging Het
Ralyl T A 3: 14,172,332 (GRCm39) probably benign Het
Samd9l T C 6: 3,374,798 (GRCm39) E821G probably damaging Het
Serpinb3a T A 1: 106,973,802 (GRCm39) I370F probably damaging Het
Setd1a A G 7: 127,396,870 (GRCm39) probably benign Het
Slco2a1 T A 9: 102,951,615 (GRCm39) F381L probably benign Het
Strada A G 11: 106,059,182 (GRCm39) Y199H probably benign Het
Stxbp2 T C 8: 3,682,531 (GRCm39) I40T probably damaging Het
Tbx3 T C 5: 119,816,877 (GRCm39) V358A possibly damaging Het
Tenm3 A G 8: 48,752,674 (GRCm39) L896S probably benign Het
Tmem132a A G 19: 10,835,882 (GRCm39) S883P probably damaging Het
Trio A G 15: 27,818,190 (GRCm39) I496T possibly damaging Het
Unc79 C T 12: 103,078,535 (GRCm39) R1548W probably damaging Het
Unc79 T C 12: 103,078,277 (GRCm39) probably benign Het
Vmn2r9 T C 5: 108,996,067 (GRCm39) M194V possibly damaging Het
Other mutations in Mapkap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01714:Mapkap1 APN 2 34,408,855 (GRCm39) missense probably damaging 1.00
IGL02104:Mapkap1 APN 2 34,513,482 (GRCm39) nonsense probably null
IGL02390:Mapkap1 APN 2 34,322,101 (GRCm39) missense probably damaging 0.99
IGL02817:Mapkap1 APN 2 34,453,130 (GRCm39) missense probably damaging 1.00
PIT4696001:Mapkap1 UTSW 2 34,509,861 (GRCm39) missense probably damaging 0.96
R0129:Mapkap1 UTSW 2 34,513,494 (GRCm39) missense probably damaging 1.00
R0480:Mapkap1 UTSW 2 34,423,793 (GRCm39) splice site probably benign
R1966:Mapkap1 UTSW 2 34,408,691 (GRCm39) missense probably damaging 0.98
R2167:Mapkap1 UTSW 2 34,487,494 (GRCm39) missense probably damaging 1.00
R4432:Mapkap1 UTSW 2 34,509,875 (GRCm39) missense probably damaging 1.00
R4789:Mapkap1 UTSW 2 34,423,859 (GRCm39) missense possibly damaging 0.64
R4805:Mapkap1 UTSW 2 34,487,434 (GRCm39) critical splice acceptor site probably null
R4806:Mapkap1 UTSW 2 34,487,434 (GRCm39) critical splice acceptor site probably null
R4807:Mapkap1 UTSW 2 34,487,434 (GRCm39) critical splice acceptor site probably null
R4808:Mapkap1 UTSW 2 34,487,434 (GRCm39) critical splice acceptor site probably null
R4862:Mapkap1 UTSW 2 34,513,442 (GRCm39) missense probably damaging 1.00
R4989:Mapkap1 UTSW 2 34,471,303 (GRCm39) missense probably damaging 1.00
R5283:Mapkap1 UTSW 2 34,334,360 (GRCm39) missense probably damaging 1.00
R6186:Mapkap1 UTSW 2 34,453,126 (GRCm39) missense possibly damaging 0.76
R6248:Mapkap1 UTSW 2 34,408,692 (GRCm39) missense probably damaging 1.00
R6891:Mapkap1 UTSW 2 34,453,153 (GRCm39) missense probably damaging 1.00
R6985:Mapkap1 UTSW 2 34,322,122 (GRCm39) missense probably damaging 1.00
R7078:Mapkap1 UTSW 2 34,453,151 (GRCm39) missense probably damaging 1.00
R7179:Mapkap1 UTSW 2 34,408,712 (GRCm39) missense possibly damaging 0.88
R7336:Mapkap1 UTSW 2 34,423,829 (GRCm39) missense possibly damaging 0.51
R7392:Mapkap1 UTSW 2 34,325,166 (GRCm39) missense probably damaging 1.00
R8479:Mapkap1 UTSW 2 34,471,302 (GRCm39) missense probably damaging 1.00
R9580:Mapkap1 UTSW 2 34,509,878 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16